ClinVar Miner

List of variants reported as benign for acute hepatic porphyria by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000097.7(CPOX):c.990A>G (p.Glu330=) rs1729995
NM_000140.4(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.4(FECH):c.921A>G (p.Pro307=) rs536560
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_000190.4(HMBS):c.613-19C>A rs1784304
NM_000190.4(HMBS):c.88-14G>A rs17075

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.